What is Ollier disease?
Ollier disease is a skeletal disorder that is characterized by benign growths of cartilage that form in between the bones. These growths, called enchondromas, typically appear in the limb bones, especially those of the hands and feet.
What are the symptoms of Ollier disease?
Symptoms usually appear in the first decade of life, although they can be present at birth. The first symptoms tend to be swelling in the fingers and/or toes due to a growth, the shortening of an extremity that leads to limping, and skeletal deformities.
The enchondromas can cause fractures, skeletal deformities, and shorter bones. Because of the growths, the bones bend and curve. This can also impact the joints and muscles.
While the growths are benign, there is a low chance that they will transform into malignant chondrosarcomas. This happens to about 25% of affected individuals by age 40.
What causes Ollier disease?
Medical professionals are still trying to completely understand the cause of this disease. One of three genes are usually responsible: PTH1R, IDH2, or IDH1. These mutated genes are only present in some of the cells within the body, and the mutations are not usually inherited from a parent.
How is Ollier disease diagnosed?
A clinical examination in combination with imaging tests usually leads to a diagnosis. Doctors will use CT scans, MRIs, or X-rays. Biopsies of the growths are also necessary to ensure that they are not malignant.
What are the treatments for Ollier disease?
Treatment depends on the severity of each individual case. Surgery or joint replacement is an option for some, but doctors do not usually look to surgery unless it is absolutely necessary. Physical therapy is a better option for many, as the goal of treatment is to reduce pain and ensure that affected individuals can walk properly.